A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2597158



Internal ID8314031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:14103072..14104593hg38UCSC Ensembl
Outerchr11:14124618..14126139hg19UCSC Ensembl
Outerchr11:14081194..14082715hg18UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg381522
hg191522
hg181522
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5170533
SamplesNA18507
Known GenesSPON1
MethodSequencing
AnalysisLarger insertions and deletions are found by looking at variation in mate pair distances in the 2x50 mate pair libraries. These data are included in separate files for each of three coverage values: 2.2x, 4.0x, 5.6x, and 8.4x
PlatformNot specified
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2597158
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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